HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129822671A>G , CM000671.2:g.129822671A>G | GRCh38 |
NC_000009.11:g.132584950A>G , CM000671.1:g.132584950A>G | GRCh37 |
NC_000009.10:g.131624771A>G | NCBI36 |
NG_008049.1:g.6492T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.354T>C MANE Select | ENSP00000345719.4:p.Asn118= | |
ENST00000651202.1:c.450T>C | ENSP00000498222.1:p.Asn150= | |
ENST00000351698.4:c.354T>C | ENSP00000345719.4:p.Asn118= | |
ENST00000473084.1:n.373T>C | ||
ENST00000473604.2:n.464T>C | ||
NM_000113.2:c.354T>C | NP_000104.1:p.Asn118= | |
XR_929731.1:n.514T>C | ||
XR_929731.3:n.382T>C | ||
NM_000113.3:c.354T>C MANE Select | NP_000104.1:p.Asn118= |